Isaacs H, Gericke G
Department of Physiology, Witwatersrand University Medical School, Johannesburg, South Africa.
Muscle Nerve. 1990 Oct;13(10):915-7. doi: 10.1002/mus.880131005.
Two children about to undergo corrective surgery were required to be investigated for malignant hyperthermia (MH). These investigations arose out of concern by the anesthetist who had obtained a history of unexplained pyrexial reactions to anaesthetic in other members of the family. Because over the years we have encountered several children with multiple congenital abnormalities who have been found to be susceptible to MH, we stressed the advisability of biopsying not only the patient but also the patient's parents. Positive responses for MH were obtained in the patients and in one of the parents on each occasion. The hypothesis of intrauterine MH with its pharmacogenetic propensity for heat production is considered as a possible etiological factor which may cause abnormalities of a congenital nature.
两名即将接受矫正手术的儿童需要接受恶性高热（MH）检查。这些检查是由于麻醉师的担忧而进行的，该麻醉师了解到患儿家族其他成员有过不明原因的麻醉后发热反应病史。多年来，我们遇到过几名患有多种先天性异常的儿童，发现他们易患MH，因此我们强调不仅要对患者进行活检，还要对患者的父母进行活检。每次在患者及其父母之一身上都获得了MH的阳性反应。子宫内MH及其产生热量的药物遗传学倾向这一假说被认为是可能导致先天性异常的病因之一。
